Condition: GLYCOGEN STORAGE DISEASE XV
rs143137713 in
GYG1 gene and
GLYCOGEN STORAGE DISEASE XV
PMID 25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
PMID 27718144 2017 Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
PMID 22160680 2011 The Thr83Met mutation, which causes glycogen storage disease XV, is conformationally locked in the ground state and catalytically inactive.
PMID 20357282 2010 Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.